Wilson Disease and the wonderful world of rare disorders

MedUni Vienna researchers have discovered a recently described genetic mutation could protect against fatty liver and possibly ensure a better outcome for Wilson disease.

Copper storage disease, also known as Wilson Disease, is a rare genetic disorder in which one or more genetic mutations disrupt copper metabolism in the liver. At some point the liver becomes incapable of eliminating copper with the bile and copper accumulates, especially in the liver, eyes and central nervous system. As a consequence of this, serious liver disease and damage can occur and neurological problems inter alia.

Let’s talk genetic mutations

According to researchers from the Medical University of Vienna, Austria, led by hepatologist Peter Ferenci, a recently described genetic mutation, identified as HSD17B13 which, plays an important role in vitamin A metabolism, could prove very useful in the personalised treatment of patients with Wilson Disease.

Follow-up studies are planned to establish whether Wilson Disease patients could benefit from this knowledge – and potential treatment through the administration of vitamin A.

This genetic mutation was found in every fourth person (roughly 26%).

Ferenci explains: “We can assume that the HSD17B13 gene plays a critical role in the progression of Wilson disease.

“If patients do not have this mutation, their prognosis is poorer. So, in the spirit of precision medicine, we are able to predict much more accurately how the disease will progress.”

In a highly regarded study already published in the leading journal Hepatologyin 2018, the researchers showed that the protein ATP7B, known as the ‘Wilson disease gene’ and of which there are hundreds of mutations, did not provide any definitive information regarding prognosis.

What do you know about Wilson Disease?

Wilson disease can go undetected for years and is usually discovered by accident. The age range is huge: the youngest known case in Vienna is a two-year-old child and the oldest patient was 74 years old.

The symptoms are diversely inconsistent, the disease can be symptomless for a long time or manifest in the form of severe liver damage, Kayser-Fleischer rings in the eyes (corneal changes) and neurological problems including movement disorders such as twitching or tremor in the limbs or even slurred speech and difficulty in swallowing.

“In addition to that, there are often psychiatric disorders such as compulsive behaviours through to psychosis,” adds Ferenci.